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  1. Article ; Online: Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.

    Bockenhauer, Detlef / Kleta, Robert

    Pediatric nephrology (Berlin, Germany)

    2021  Volume 36, Issue 8, Page(s) 2553–2561

    Abstract: Evolution moves in mysterious ways. Excretion of waste products by glomerular filtration made perfect sense when life evolved in the ocean. Yet, the associated loss of water and solutes became a problem when life moved onto land: a serious design change ... ...

    Abstract Evolution moves in mysterious ways. Excretion of waste products by glomerular filtration made perfect sense when life evolved in the ocean. Yet, the associated loss of water and solutes became a problem when life moved onto land: a serious design change was needed and this occurred in the form of ever more powerful tubules that attached to the glomerulus. By reabsorbing typically more than 99% of the glomerular filtrate, the tubules not only minimise urinary losses, but, crucially, also maintain homeostasis: tubular reabsorption and secretion are adjusted so as to maintain an overall balance, in which urine volume and composition matches intake and environmental stressors. A whole orchestra of highly specialised tubular transport proteins is involved in this process and dysfunction of one or more of these results in the so-called kidney tubulopathies, characterised by specific patterns of clinical and biochemical abnormalities. In turn, recognition of these patterns helps establish a specific diagnosis and pinpoints the defective transport pathway. In this review, we will discuss these clinical and biochemical "fingerprints" of tubular disorders of salt-handling and how sodium handling affects volume homeostasis but also handling of other solutes.
    MeSH term(s) Humans ; Kidney ; Kidney Diseases ; Kidney Glomerulus ; Sodium Chloride ; Sodium Chloride, Dietary
    Chemical Substances Sodium Chloride, Dietary ; Sodium Chloride (451W47IQ8X)
    Language English
    Publishing date 2021-06-18
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-021-05098-5
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  2. Article ; Online: The pathophysiology of distal renal tubular acidosis.

    Wagner, Carsten A / Unwin, Robert / Lopez-Garcia, Sergio C / Kleta, Robert / Bockenhauer, Detlef / Walsh, Stephen

    Nature reviews. Nephrology

    2023  Volume 19, Issue 6, Page(s) 384–400

    Abstract: The kidneys have a central role in the control of acid-base homeostasis owing to bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule and active acid secretion along the collecting duct. Impaired acid excretion by the ... ...

    Abstract The kidneys have a central role in the control of acid-base homeostasis owing to bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule and active acid secretion along the collecting duct. Impaired acid excretion by the collecting duct system causes distal renal tubular acidosis (dRTA), which is characterized by the failure to acidify urine below pH 5.5. This defect originates from reduced function of acid-secretory type A intercalated cells. Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and probably in other genes that are yet to be discovered. Inheritance of dRTA follows autosomal-dominant and -recessive patterns. Acquired forms of dRTA are caused by various types of autoimmune diseases or adverse effects of some drugs. Incomplete dRTA is frequently found in patients with and without kidney stone disease. These patients fail to appropriately acidify their urine when challenged, suggesting that incomplete dRTA may represent an intermediate state in the spectrum of the ability to excrete acids. Unrecognized or insufficiently treated dRTA can cause rickets and failure to thrive in children, osteomalacia in adults, nephrolithiasis and nephrocalcinosis. Electrolyte disorders are also often present and poorly controlled dRTA can increase the risk of developing chronic kidney disease.
    MeSH term(s) Adult ; Child ; Humans ; Acidosis, Renal Tubular/genetics ; Acidosis, Renal Tubular/drug therapy ; Kidney Calculi ; Kidney Tubules, Proximal ; Forkhead Transcription Factors/therapeutic use ; Vacuolar Proton-Translocating ATPases/genetics
    Chemical Substances dirhodium tetraacetate (NK3058Z56X) ; FOXI1 protein, human ; Forkhead Transcription Factors ; ATP6V1B1 protein, human ; Vacuolar Proton-Translocating ATPases (EC 3.6.1.-)
    Language English
    Publishing date 2023-04-04
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2490366-8
    ISSN 1759-507X ; 1759-5061
    ISSN (online) 1759-507X
    ISSN 1759-5061
    DOI 10.1038/s41581-023-00699-9
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  3. Book ; Thesis: Der Wasserfluß durch die Humanplazenta

    Kleta, Robert Fritz

    Untersuchungen an der künstlich perfundierten Plazenta

    1993  

    Author's details vorgelegt von Robert Fritz Kleta
    Language German
    Size 55 Bl. : Ill., graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Hamburg, Univ., Diss., 1993
    HBZ-ID HT006512142
    Database Catalogue ZB MED Medicine, Health

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  4. Article ; Online: MUC1

    Gale, Daniel P / Kleta, Robert

    Journal of the American Society of Nephrology : JASN

    2018  Volume 29, Issue 9, Page(s) 2257–2258

    MeSH term(s) Humans ; Mucin-1 ; Polycystic Kidney Diseases
    Chemical Substances MUC1 protein, human ; Mucin-1
    Language English
    Publishing date 2018-08-17
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2018070742
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  5. Article ; Online: Of dogs and men.

    Bockenhauer, Detlef / Kleta, Robert

    European journal of human genetics : EJHG

    2017  Volume 25, Issue 2, Page(s) 161

    Language English
    Publishing date 2017-02
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2016.161
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  6. Article: Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.

    Forst, Anna-Lena / Reichold, Markus / Kleta, Robert / Warth, Richard

    Frontiers in physiology

    2021  Volume 12, Page(s) 715485

    Abstract: The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex ... ...

    Abstract The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex signaling networks. Proximal tubular mitochondrial dysfunction can therefore affect renal function in very different ways. Two autosomal dominantly inherited forms of renal Fanconi syndrome illustrate how multifaceted mitochondrial pathology can be: Mutation of EHHADH, an enzyme in fatty acid metabolism, results in decreased ATP synthesis and a consecutive transport defect. In contrast, mutations of GATM, an enzyme in the creatine biosynthetic pathway, leave ATP synthesis unaffected but do lead to mitochondrial protein aggregates, inflammasome activation, and renal fibrosis with progressive renal failure. In this review article, the distinct pathophysiological mechanisms of these two diseases are presented, which are examples of the spectrum of proximal tubular mitochondrial diseases.
    Language English
    Publishing date 2021-07-19
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2564217-0
    ISSN 1664-042X
    ISSN 1664-042X
    DOI 10.3389/fphys.2021.715485
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  7. Article ; Online: Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

    Kleta, Robert / Bockenhauer, Detlef

    Journal of the American Society of Nephrology : JASN

    2017  Volume 29, Issue 3, Page(s) 727–739

    Abstract: Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of ... ...

    Abstract Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists. Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences. Salt-losing tubulopathies can affect all tubular segments, from the proximal tubule to the collecting duct. But the more frequently observed disorders are Bartter and Gitelman syndrome, which affect salt transport in the thick ascending limb of Henle's loop and/or the distal convoluted tubule, and these disorders generate the greatest controversies regarding management. Here, we review clinical and molecular aspects of salt-losing tubulopathies and discuss novel insights provided mainly by genetic investigations and retrospective clinical reviews. Additionally, we discuss controversial topics in the management of these disorders to highlight areas of importance for future clinical trials. International collaboration will be required to perform clinical studies to inform the treatment of these rare disorders.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Adolescent ; Antigens, Neoplasm/genetics ; Bartter Syndrome/genetics ; Bartter Syndrome/physiopathology ; Child ; Child, Preschool ; Fanconi Syndrome/genetics ; Fanconi Syndrome/physiopathology ; Gitelman Syndrome/genetics ; Gitelman Syndrome/physiopathology ; Humans ; Infant ; Infant, Newborn ; Kidney Tubules/physiopathology ; Renal Reabsorption/genetics ; Sodium Chloride/metabolism ; Solute Carrier Proteins/genetics
    Chemical Substances Adaptor Proteins, Signal Transducing ; Antigens, Neoplasm ; MAGED2 protein, human ; Solute Carrier Proteins ; Sodium Chloride (451W47IQ8X)
    Language English
    Publishing date 2017-12-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2017060600
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  8. Article ; Online: A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.

    Voinescu, Cătălin D / Mozere, Monika / Genovese, Giulio / Downie, Mallory L / Gupta, Sanjana / Gale, Daniel P / Bockenhauer, Detlef / Kleta, Robert / Arcos-Burgos, Mauricio / Stanescu, Horia C

    Kidney international

    2024  Volume 105, Issue 4, Page(s) 791–798

    Abstract: Class 2 HLA and PLA2R1 alleles are exceptionally strong genetic risk factors for membranous nephropathy (MN), leading, through an unknown mechanism, to a targeted autoimmune response. Introgressed archaic haplotypes (introduced from an archaic human ... ...

    Abstract Class 2 HLA and PLA2R1 alleles are exceptionally strong genetic risk factors for membranous nephropathy (MN), leading, through an unknown mechanism, to a targeted autoimmune response. Introgressed archaic haplotypes (introduced from an archaic human genome into the modern human genome) might influence phenotypes through gene dysregulation. Here, we investigated the genomic region surrounding the PLA2R1 gene. We reconstructed the phylogeny of Neanderthal and modern haplotypes in this region and calculated the probability of the observed clustering being the result of introgression or common descent. We imputed variants for the participants in our previous genome-wide association study and we compared the distribution of Neanderthal variants between MN cases and controls. The region associated with the lead MN risk locus in the PLA2R1 gene was confirmed and showed that, within a 507 kb region enriched in introgressed sequence, a stringently defined 105 kb haplotype, intersecting the coding regions for PLA2R1 and ITGB6, is inherited from Neanderthals. Thus, introgressed Neanderthal haplotypes overlapping PLA2R1 are differentially represented in MN cases and controls, with enrichment In controls suggesting a protective effect.
    MeSH term(s) Humans ; Animals ; Neanderthals/genetics ; Haplotypes ; Glomerulonephritis, Membranous/genetics ; Genome, Human ; Genome-Wide Association Study ; Receptors, Phospholipase A2/genetics
    Chemical Substances PLA2R1 protein, human ; Receptors, Phospholipase A2
    Language English
    Publishing date 2024-02-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2024.01.017
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  9. Article ; Online: Bartter and Gitelman syndromes: Questions of class.

    Besouw, Martine T P / Kleta, Robert / Bockenhauer, Detlef

    Pediatric nephrology (Berlin, Germany)

    2019  Volume 35, Issue 10, Page(s) 1815–1824

    Abstract: Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) ... ...

    Abstract Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Yet, the clinical phenotype can show remarkable variability, leading to potential divergences between classifications. These problems mostly relate to uncertainties over the role of the basolateral chloride exit channel CLCNKB, expressed in both TAL and DCT and to what degree the closely related paralogue CLCNKA can compensate for the loss of CLCNKB function. Here, we review what is known about the physiology of the transport proteins involved in these disorders. We also review the various proposed classifications and explain why a gene-based classification constitutes a pragmatic solution.
    MeSH term(s) Bartter Syndrome/classification ; Bartter Syndrome/genetics ; Bartter Syndrome/pathology ; Chloride Channels/genetics ; Chloride Channels/metabolism ; Gitelman Syndrome/classification ; Gitelman Syndrome/genetics ; Gitelman Syndrome/pathology ; Humans ; Kidney Tubules, Distal/pathology ; Loop of Henle/pathology ; Mutation ; Renal Reabsorption/genetics ; Sodium/metabolism
    Chemical Substances CLCNKA protein, human ; CLCNKB protein, human ; Chloride Channels ; Sodium (9NEZ333N27)
    Language English
    Publishing date 2019-10-29
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-019-04371-y
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  10. Article ; Online: Inherited Tubulopathies of the Kidney: Insights from Genetics.

    Downie, Mallory L / Lopez Garcia, Sergio C / Kleta, Robert / Bockenhauer, Detlef

    Clinical journal of the American Society of Nephrology : CJASN

    2020  Volume 16, Issue 4, Page(s) 620–630

    Abstract: The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an ... ...

    Abstract The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes. Inherited tubulopathies are characterized by impaired function of one or more of these specific transport molecules. The clinical consequences can range from isolated alterations in the concentration of specific solutes in blood or urine to serious and life-threatening disorders of homeostasis. In this review, we focus on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology have crossfertilized each other and facilitated the identification of these disorders and their molecular basis. In turn, clinical investigations of genetically defined patients have shaped our understanding of kidney physiology.
    MeSH term(s) Humans ; Kidney/physiology ; Kidney Diseases/genetics ; Kidney Tubules
    Language English
    Publishing date 2020-04-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2226665-3
    ISSN 1555-905X ; 1555-9041
    ISSN (online) 1555-905X
    ISSN 1555-9041
    DOI 10.2215/CJN.14481119
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